| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu188Gln |
c.562G>C |
3 |
188 |
Connector |
|
Small rearrangement |
Tv |
G->C |
1  |
|
|
| p.Glu205Gln |
c.613G>C |
3 |
205 |
Connector |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2498 |
SO_-3572---G04319 | |
|
- |
|
71 |
|
| p.Glu251Gln |
c.751G>C |
4 |
251 |
Connector |
|
Small rearrangement |
Tv |
G->C |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2600 |
SO_-4410---G06526 | |
|
- |
|
71 |
|